NIAMS Establishes Lupus Registry and Repository

The National Institute of Arthritis and Musculoskeletal and Skin Diseases
(NIAMS) has established a lupus registry and repository to study not only patients
but also their families in order to identify genes that determine susceptibility
to the disease. The high prevalence of lupus among relatives of lupus patients
suggests a genetic component for the disease. However, genetic studies of lupus
to date have been incomplete.

"Our understanding of lupus and development of new treatments are sure to
be aided by finding the genes that cause the disease," said Dr. Stephen I.
Katz, Director of the NIAMS. "By providing an extensive source of medical information,
the registry will serve as a valuable resource for researchers to advance genetic
studies of this important disease," he said.

The Lupus Registry and Repository will be assembled and administered at the
Oklahoma Medical Research Foundation in Oklahoma City, Oklahoma. The project
will be directed by Dr. John Harley, Professor of Immunology at the University
of Oklahoma Health Sciences Center and staff physician at the Oklahoma City
Veterans Medical Center. They are seeking lupus patients who have two or more
family members who have also been diagnosed with the disease. Patients, many
of whom are minorities, will be recruited from clinics, private practices,
and voluntary organizations. Families who qualify for the study will be sent
a sample collection kit, a consent form and a questionnaire. A blood sample
will be collected and the completed materials will be sent to Dr. Harley and
his associates for evaluation.

Dr. Harley and his associates will collect and update clinical, demographic
and laboratory data on all patients with lupus and their families for the Lupus
Registry. They will store blood, cells and DNA from these individuals in the
Lupus Repository. The researchers will also analyze each DNA sample in the
repository for the presence of a standard set of genetic markers. A centralized
database will provide this genetic information along with clinical and laboratory
information from the registry. Together, these data can be used as the starting
point for genetic analysis to identify possible lupus genes. Ultimately the
repository will contain data on more than 125 fully characterized lupus families,
and be available to other researchers.

Systemic lupus erythematosus (SLE, or lupus) is believed to result from an
interplay of genetic, environmental, and hormonal factors. In lupus, the immune
system is thrown out of balance and produces autoantibodies (antibodies that
attack the patient's own tissues). The disease can affect many parts of the
body, including the joints, skin, kidney, lungs, heart, nervous system, and
blood vessels. It is characterized by period of flares and remissions--that
is, periods when disease symptoms either worsen or improve. Ninety percent
of lupus patients are women, and the disease most often strikes during the
childbearing years. In addition, lupus is three times more common in black
women than in white women.

Dr. Harley said that solving the problem of lupus is especially difficult
because features of the illness vary from patient to patient. "We plan to use
the utmost care in categorizing each patient. Hopefully, investigators will
find this information useful and dependable as they attempt to understand the
mysteries of this disease."